Ultrarare diseases: first guidelines for Malan syndrome published
Malan syndrome, the first guidelines are the result of the scientific collaboration between Bambino Gesù and Grande Ospedale Metropolitano di Reggio Calabria. The clinical features of the disease that affects 1 in 1 million children have been defined
For children with Malan syndrome, an ultra-rare genetic disease, the first guidelines have arrived with detailed indications on diagnosis and correct clinical management
They were drawn up by specialists from the Bambino Gesù Paediatric Hospital and the Great Metropolitan Hospital of Reggio Calabria at the end of a study on a group of 16 patients suffering from the disease.
They also precisely delineated the clinical features of the disease, which was first described in 2010.
The guidelines and new information on the syndrome, published in the Orphanet Journal of Rare Diseases, are now available to the international scientific community.
MALAN SYNDROME
Described only 12 years ago, Malan syndrome is an ultra-rare genetic disorder characterised by overgrowth, macrocephaly, craniofacial dysmorphisms, abnormalities in several body districts, developmental delay, atypical behaviour and various degrees of intellectual disability.
The prevalence is about 1 in 1 million children and there are fewer than 90 cases reported in the literature worldwide.
The study by the Bambino Gesù and the Hospital of Reggio Calabria brings new detailed information on the characteristics of the disease, which, due to the still limited knowledge and clinical similarities with Sotos syndrome (another rare overgrowth condition), has for years been called ‘Sotos 2’.
CHILD HEALTH: LEARN MORE ABOUT MEDICHILD BY VISITING THE BOOTH AT EMERGENCY EXPO
A MULTIDISCIPLINARY TEAM FOR ‘MALAN CHILDREN
The study on Malan syndrome was conducted at the Bambino Gesù Paediatric Hospital on a group of 16 patients (13 paediatric and 3 young adults) within a dedicated outpatient pathway.
The group was systematically evaluated for 18 months by a multidisciplinary team coordinated by paediatricians specialised in Rare Diseases and Medical Genetics at the Bambino Gesù with the scientific collaboration of the Medical Genetics Unit of the Grande Ospedale Metropolitano of Reggio Calabria and the support of ASSI Gulliver, the Italian association that brings together and supports people affected by Sotos and Malan syndromes.
THE IDENTIKIT OF THE SYNDROME AND THE FIRST GUIDELINES
With the information gathered during the observation period of the 16 patients, the multidisciplinary research group precisely defined the clinical features of the syndrome (deep phenotyphing) and drew up the first guidelines: a series of international reference indications for the early identification of the main manifestations of the disease, for the correct clinical management of patients and for monitoring evolutionary complications.
The reference authors of this work published in the Orphanet Journal of Rare Diseases are Dr. Marina Macchiaiolo of the Rare Diseases and Medical Genetics Unit of the Bambino Gesù and Dr. Manuela Priolo, of the Medical Genetics Unit of the Grande Ospedale Metropolitano of Reggio Calabria.
The clinical profile of the ‘Malan children’ was further detailed with two other scientific studies (one of which has just been published in the Journal of Clinical Medicine) that investigated the disease’s peculiar features on the neuropsychiatric, neuro-cognitive and behavioural fronts.
The reference authors of both studies are Dr. Paolo Alfieri, of the Childhood and Adolescence Neuropsychiatry Unit of the Bambino Gesù and Dr. Manuela Priolo.
Read Also:
Emergency Live Even More…Live: Download The New Free App Of Your Newspaper For IOS And Android
Zika Linked To Guillain-Barre Syndrome In New Study
Down Syndrome And COVID-19, Research At Yale University
Rescue Training, Neuroleptic Malignant Syndrome: What It Is And How To Deal With It
Guillain-Barré Syndrome, Neurologist: ‘No Link To Covid Or Vaccine’
Facial Nerve Injuries: Bell’s Palsy And Other Causes Of Paralysis
Rare Diseases: Russian Economist Anatoly Chubais Diagnosed With Guillain Barré Syndrome